Variant report

Variant	rs4146836
Chromosome Location	chr15:93446472-93446473
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:93445895-93446525	K562	blood:	n/a	chr15:93445984-93445995
2	POLR2A	chr15:93446372-93446699	GM12891	blood:	n/a	n/a
3	POLR2A	chr15:93445798-93449703	U87	brain:	n/a	n/a
4	RCOR1	chr15:93446390-93446681	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:93442973-93453321	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:93433692-93455675	K562	blood:	n/a	n/a
7	POLR2A	chr15:93445826-93446679	HepG2	liver:	n/a	n/a
8	POLR2A	chr15:93446020-93448870	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:93446401-93446632	HCT-116	colon:	n/a	n/a
10	POLR2A	chr15:93445723-93452019	IMR90	lung:	n/a	n/a
11	POLR2A	chr15:93446235-93446761	GM12892	blood:	n/a	n/a
12	TEAD4	chr15:93445997-93449031	K562	blood:	n/a	n/a
13	RELA	chr15:93445931-93448073	GM12878	blood:	n/a	chr15:93447745-93447754 chr15:93447745-93447754
14	NFATC1	chr15:93446250-93448561	GM12878	blood:	n/a	n/a
15	POLR2A	chr15:93443026-93448707	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr15:93445945-93449157	K562	blood:	n/a	n/a
17	SPI1	chr15:93446417-93446685	GM12891	blood:	n/a	n/a
18	CEBPB	chr15:93445906-93446554	IMR90	lung:	n/a	chr15:93445984-93445995
19	ARID3A	chr15:93445678-93448097	K562	blood:	n/a	n/a
20	POLR2A	chr15:93446383-93446697	H1-hESC	embryonic stem cell:	n/a	n/a
21	SPI1	chr15:93446245-93446756	HL-60	blood:	n/a	chr15:93446400-93446413
22	POLR2A	chr15:93446442-93446657	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr15:93445881-93446747	HCT-116	colon:	n/a	n/a
24	POLR2A	chr15:93443087-93448872	MCF-7	breast:	n/a	n/a
25	CHD1	chr15:93443269-93448419	H1-hESC	embryonic stem cell:	n/a	chr15:93447634-93447644 chr15:93448003-93448013
26	KAP1	chr15:93445903-93446900	K562	blood:	n/a	n/a
27	POLR2A	chr15:93445786-93453047	GM12891	blood:	n/a	n/a
28	POLR2A	chr15:93445764-93446749	K562	blood:	n/a	n/a
29	POLR2A	chr15:93446315-93446751	GM12892	blood:	n/a	n/a
30	POLR2A	chr15:93442438-93449413	Hela-S3	cervix:	n/a	n/a
31	ARID3A	chr15:93446287-93447875	HepG2	liver:	n/a	n/a
32	POLR2A	chr15:93446352-93446662	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr15:93445726-93448992	GM12878	blood:	n/a	n/a
34	SPI1	chr15:93446229-93446887	GM12878	blood:	n/a	chr15:93446400-93446413
35	NFATC1	chr15:93445890-93448961	GM12878	blood:	n/a	n/a
36	RELA	chr15:93445939-93448575	GM18505	blood:	n/a	chr15:93447745-93447754 chr15:93447745-93447754
37	MXI1	chr15:93442841-93449632	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr15:93445924-93448969	HepG2	liver:	n/a	n/a
39	POLR2A	chr15:93445999-93446626	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr15:93445759-93449645	U87	brain:	n/a	n/a
41	POLR2A	chr15:93446402-93446698	HepG2	liver:	n/a	n/a
42	POLR2A	chr15:93446452-93446621	GM12878	blood:	n/a	n/a
43	IRF1	chr15:93446073-93450870	K562	blood:	n/a	chr15:93447265-93447279 chr15:93450726-93450735 chr15:93447970-93447984 chr15:93450727-93450736 chr15:93447545-93447554 chr15:93447632-93447646 chr15:93448001-93448015 chr15:93448087-93448100 chr15:93446787-93446799 chr15:93449105-93449119
44	POLR2A	chr15:93445782-93450636	MCF10A-Er-Src	breast:	n/a	n/a
45	MXI1	chr15:93445935-93448625	GM12878	blood:	n/a	n/a
46	EP300	chr15:93445943-93446686	GM12878	blood:	n/a	chr15:93446589-93446603 chr15:93446402-93446411 chr15:93446590-93446599
47	CHD1	chr15:93442849-93450583	GM12878	blood:	n/a	chr15:93447634-93447644 chr15:93448003-93448013
48	GATA1	chr15:93446344-93448652	PBDE	blood:	n/a	chr15:93446400-93446410 chr15:93446591-93446601
49	FOS	chr15:93446018-93446753	MCF10A-Er-Src	breast:	n/a	chr15:93446400-93446409 chr15:93446394-93446403
50	PML	chr15:93446336-93448599	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:93377060..93379186-chr15:93444151..93447492,3	K562	blood:
2	chr15:93393520..93395102-chr15:93444710..93447228,2	K562	blood:
3	chr15:93333327..93367027-chr15:93419774..93462750,363	K562	blood:
4	chr15:93344712..93371031-chr15:93418700..93467618,365	MCF-7	breast:
5	chr15:93372787..93376736-chr15:93445833..93447508,3	K562	blood:
6	chr15:93337836..93370220-chr15:93420085..93452591,332	K562	blood:
7	chr15:93345383..93371459-chr15:93416796..93454653,318	MCF-7	breast:

Variant related genes	Relation type
CHD2	TF binding region
MIR3175	TF binding region
ENSG00000258527	Chromatin interaction
ENSG00000185442	Chromatin interaction
ENSG00000258922	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10852185	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11074119	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1143115	0.82[AFR][1000 genomes]
rs12903587	0.81[AMR][1000 genomes]
rs12904071	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12907473	0.86[EUR][1000 genomes]
rs12908968	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1439618	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1439619	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3826037	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4146837	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
2	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
3	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
4	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
5	nsv948881	chr15:93383740-93603608	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv1047496	chr15:93412778-93475878	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1036560	chr15:93413594-93462163	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
8	esv1851305	chr15:93429646-93446869	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv530847	chr15:93444024-93555676	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
10	nsv917347	chr15:93444094-93586814	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93438200-93447200	Weak transcription	Spleen	Spleen
2	chr15:93442600-93449000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr15:93443000-93448200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:93443000-93448200	Active TSS	NHEK	skin
5	chr15:93443000-93448600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr15:93443200-93446800	Active TSS	HSMMtube	muscle
7	chr15:93443200-93447200	Active TSS	HMEC	breast
8	chr15:93443200-93448000	Active TSS	Brain Substantia Nigra	brain
9	chr15:93443200-93448200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr15:93443200-93448200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr15:93443200-93448200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr15:93443200-93448200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:93443200-93448200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:93443200-93448200	Active TSS	Duodenum Mucosa	Duodenum
15	chr15:93443200-93448400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr15:93443200-93448400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:93443200-93448400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:93443200-93448400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:93443200-93448400	Active TSS	Brain Germinal Matrix	brain
20	chr15:93443200-93448400	Active TSS	Placenta	Placenta
21	chr15:93443200-93448400	Active TSS	Fetal Stomach	stomach
22	chr15:93443200-93448400	Active TSS	HSMM	muscle
23	chr15:93443200-93448600	Active TSS	Colonic Mucosa	Colon
24	chr15:93443200-93448800	Active TSS	Aorta	Aorta
25	chr15:93443200-93448800	Active TSS	Fetal Muscle Trunk	muscle
26	chr15:93443200-93448800	Active TSS	Ovary	ovary
27	chr15:93443200-93449200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:93443200-93449400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:93443200-93449800	Active TSS	Right Ventricle	heart
30	chr15:93443200-93450000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr15:93443200-93450000	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr15:93443400-93448200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:93443400-93448200	Active TSS	Fetal Intestine Large	intestine
34	chr15:93443400-93448200	Active TSS	Fetal Thymus	thymus
35	chr15:93443400-93448400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr15:93443400-93448400	Active TSS	Thymus	Thymus
37	chr15:93443400-93449200	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr15:93443400-93449800	Active TSS	Psoas Muscle	Psoas
39	chr15:93443400-93450000	Active TSS	Right Atrium	heart
40	chr15:93443600-93448200	Active TSS	Stomach Mucosa	stomach
41	chr15:93443600-93448400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr15:93443600-93448400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:93443600-93448600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr15:93443600-93449200	Active TSS	Fetal Muscle Leg	muscle
45	chr15:93444000-93447400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
46	chr15:93444400-93446600	Transcr. at gene 5' and 3'	Fetal Lung	lung
47	chr15:93444400-93446800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:93444400-93447000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:93444400-93447200	Transcr. at gene 5' and 3'	Dnd41	blood
50	chr15:93444600-93447200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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